AutismKB 2.0

Annotation Detail for ITSN2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ITSN2 ( KIAA1256,PRO2015,SH3D1B,SH3P18,SWA,SWAP )
Gene Full Name: intersectin 2
Band: 2p23.3
Quick LinksEntrez ID:50618; OMIM: 604464; Uniprot ID:ITSN2_HUMAN; ENSEMBL ID: ENSG00000198399; HGNC ID: 6184
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
No data
Pathway IDPathway Name
200059Regulation of CDC42 activity
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of ITSN2 mRNAincreases expression 18648102
D002117 Calcitriol Calcitriol results in increased expression of ITSN2 mRNAincreases expression 16002434
C056507 gemcitabine gemcitabine results in increased expression of ITSN2 mRNAincreases expression 17039268
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of ITSN2 mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ITSN2 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of ITSN2 mRNAincreases expression 17426115
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of ITSN2 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.958875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2519490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.923712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000550 Amblyopia Valproic Acid 5.7517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.8317497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9918775368 15238991 19460635 18316065 18940202 17507914 17688650 18558336 18177632 20603192 19232924 18985861 16609825 17157402 18396377
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.5411289319 1440618
MESH:D001714 Bipolar Disorder Valproic Acid 3.2117594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.598888407
MESH:D001943 Breast Neoplasms Calcitriol 2.6811237771
MESH:D001943 Breast Neoplasms gemcitabine 2.6818382427 17039268
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.777296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.807296757
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.6911237771
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.967505956
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8020734317
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.6219486331 9022650
MESH:D002779 Cholestasis pirinixic acid 8.6219176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 8888407 16575769
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.218970840 8156756 11298694 18759878 2524372 12868966 14531868 11906362
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.843621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.189022650 9328219 18289764 18648102 18692083 11289319 6482804 16192314 9653073 1440618 7440962 6679447 8291058
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.1819641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.401851702
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3115138306
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.5717275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.443922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0720417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.877562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.717750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.533659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005234 Fatty Liver pirinixic acid 8.8319236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 8.8314986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.4116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.518888407 18558336
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006529 Hepatomegaly pirinixic acid 3.4116221962 18467677 19176532 19772884
MESH:D006849 Hydrocephalus Valproic Acid 5.3317688650
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.0416612254
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.548074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.236582329
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1917596541 16294345
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3815034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9115890375 16377806 20007298
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.71598648 3712494 6587162 1399818
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7817228818
MESH:D008881 Migraine Disorders Valproic Acid 3.4118803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.358888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.573581430
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.906679447
MESH:D009436 Neural Tube Defects Valproic Acid 7.9016359493 8888407
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.724026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D010190 Pancreatic Neoplasms gemcitabine 3.6217440100 11504793 18992248 16929163 18383843
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2920603192
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.2415572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4918247401 16289102 12479363 15754350 16644109
MESH:D019310 Pseudolymphoma Valproic Acid 5.0611422049 12752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5319155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.941511512 15475178 3137016 11738929 14763951 17978042 11044598 16876388
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0219490988
MESH:D013226 Status Epilepticus Valproic Acid 5.0612833885
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.126582329 3712494 7505956 6587162 1399818
MESH:D014178 Translocation, Genetic Valproic Acid 5.7517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.983119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.378074119
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.068888407
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA29982
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved